Marfan Syndrome

Definition

Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. This tissue is common throughout the body. It holds the body together and supports many of its structures. As a result Marfan syndrome affects many organ systems, including:

Skeleton—particularly joints

Lungs

Eyes

Heart and blood vessels

Causes

Marfan syndrome is caused by a defect in a gene. The gene controls a protein needed to build connective tissue.

In almost all cases, the defective gene is passed from a parent. In very rare cases, the defect can be caused by a mutation.

Risk Factors

Factors that increase your risk of Marfan Syndrome include:

Family members with Marfan syndrome (the child of a person with Marfan syndrome has a 50% chance of inheriting the condition)

Advanced age of parents at the time of a child's birth

Symptoms

Symptoms of Marfan syndrome range from mild to severe. It can affect one or many parts of the body. Some symptoms may be evident at an early age. Others may develop later in life. Some symptoms may worsen with age.

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY.
Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.